Congenital Heart Disease

What is congenital heart disease?

Congenital heart disease (CHD) is a defect or problem with the heart’s structure that’s present at birth, such as:

• A hole in the heart wall.
• Issues with the blood vessels (too many or too few, blood flowing too slowly, to the wrong place or in the wrong direction).
• Problems with the heart valves.

Some cases of CHD are simple and may not cause any symptoms, but others can be life-threatening and require treatment.

Heart defects may be detected early (before a baby is born or shortly afterward). But sometimes, CHD isn’t diagnosed until childhood, adolescence or adulthood.

How common are congenital heart defects?

CHD is the most common type of birth defect, affecting 8 to 9 per 1,000 live births.

What are the types of congenital heart defects?

There are two main groups of CHD: cyanotic congenital heart disease and acyanotic congenital heart disease.

Cyanotic (low oxygen in the blood) congenital heart disease

Cyanotic congenital heart disease involves heart defects that reduce the amount of oxygen delivered to the rest of the body. This is sometimes called a critical congenital heart defect. Babies born with cyanotic congenital heart disease usually have low levels of oxygen and need surgery. Examples include:

• Left heart obstructive lesions: This type of defect reduces blood flow between the heart and the rest of the body (systemic blood flow). Examples include hypoplastic left heart syndrome (when the heart is too small on the left side) and interrupted aortic arch (aorta is incomplete).
• Right heart obstructive lesions: This type of defect reduces blood flow between the heart and lungs (pulmonary blood flow). Examples include tetralogy of Fallot (a group of four defects), pulmonary atresia and tricuspid atresia (valves don’t develop correctly).
• Mixing lesions: With this type of defect, the body mixes systemic and pulmonary blood flow. One example is transposition of the great arteries when the two main arteries leaving the heart are reversed. Another is truncus arteriosus, when the heart has only one main artery, instead of two, to carry blood to the body.

Acyanotic (blood oxygen level is acceptable) congenital heart disease

Acyanotic congenital heart disease involves a defect that causes blood to pump through the body abnormally. For example:

• Hole in the heart: One of the heart’s walls can have an abnormal opening. Depending on the location of the hole, this may be called atrial septal defect, atrioventricular canal, patent ductus arteriosus or ventricular septal defect.
• Problem with the aorta: The aorta is the main artery that carries blood away from your heart to the rest of the body. It can be too narrow (aortic coarctation). Or the aortic valve (which opens and closes to regulate blood flow) may be restricted in opening and or a more common defect with only two flaps instead of three (called bicuspid aortic valve).
• Problem with the pulmonary artery: The pulmonary artery carries blood from the right side of the heart to the lungs to get oxygen. If this artery is too narrow, it’s called pulmonary artery stenosis.

What are the symptoms of congenital heart disease?

Symptoms may start as soon as a baby is born or may not appear until later in life. They can include:

• Cyanosis (blueish skin, lips or nails).
• Excessive sleepiness.
• Fast breathing or trouble breathing.
• Fatigue (extreme tiredness).
• Getting unusually tired or out of breath during exercise.
• Heart murmur (a swishing sound made by the heart that may indicate abnormal blood flow).
• Poor blood circulation.
• Weak pulse or pounding heartbeat.

The signs and symptoms vary widely, depending on:

• Age.
• The number of heart defects (a person can be born with more than one defect).
• The severity of the condition.
• Type of defect.

What causes congenital heart disease?

CHD happens when the fetal heart doesn’t develop correctly in the uterus. Scientists don’t fully understand why that happens, but it may be related to:

• Abnormal chromosomes or genetics.
• Drinking or smoking during pregnancy (or significant environmental exposures such as secondhand smoke).
• Illnesses in the mother during pregnancy (diabetes, drug use, phenylketonuria or viral infection).

How is congenital heart disease diagnosed?

Sometimes a heart defect is found before a baby is born. If your healthcare provider finds anything unusual during a routine prenatal ultrasound, you and the fetus may need further testing. For example, a fetal echocardiogram uses sound waves to create pictures of the fetal heart.

Other heart defects are found soon after a baby is born. For example, cyanotic CHD is often detected by pulse oximetry. The simple, painless test uses sensors on the fingers or toes to find out if oxygen levels are too low. Sometimes, congenital heart disease isn’t diagnosed until later in life.

Tests that can help diagnose CHD in newborns, children or adults include:

• Physical exam: During an exam, a healthcare provider will listen to the heart for any abnormal sounds.
• Chest X-ray: A chest X-ray takes pictures of the inside of your chest to reveal any structural abnormalities.
• Electrocardiogram: Electrocardiogram (EKG or ECG) measures the electrical activity of your heart.
• Echocardiogram: An echocardiogram (echo) uses ultrasound to create images of the heart’s valves and chambers.
• Heart catheterization: A healthcare provider can tell how well your heart is pumping and circulating blood by performing a heart catheterization. It’s also called cardiac catheterization or coronary angiography.
• Magnetic resonance imaging (MRI): MRI for heart disease can create detailed pictures of your heart.

How is CHD treated?

Some cases of CHD may heal themselves. Others may remain but don’t require any treatment while others must be treated soon after birth.

Anyone with a heart defect should see a heart specialist (cardiologist) regularly throughout their life. Be sure the cardiologist has training and expertise in congenital heart defects.

Treatment for CHD may involve:

• Catheter procedure to place a plug into the defect.
• Medications to help your heart work more efficiently or to manage blood pressure.
• Nonsurgical procedure to close a defect using a closing device.
• Oxygen therapy, which provides higher levels of oxygen than normal room air would.
• Prostaglandin E1, which relaxes smooth heart muscle and can keep open the ductus arteriosus (a blood vessel normally closed after birth) helping provide needed circulation.
• Surgery to repair a defect, open up blood flow or redirect blood. In severe cases, a heart transplant may be necessary.

Does adult congenital heart disease (ACHD) require special treatment?

Adults with congenital heart disease may develop certain health problems later in life. They can limit your ability to perform everyday tasks and shorten your life span. Examples include:

• Arrhythmia: Arrhythmia is an abnormal heart rhythm. It can occur when there is a problem with the heart’s structure or scar tissue from an earlier surgery.
• Endocarditis: Endocarditis is an infection in the heart. Taking antibiotics if indicated for a specific defect before dental and surgical procedures can help prevent heart infection.
• Heart failure: In heart failure, the heart can no longer pump adequately for proper blood circulation to fulfill the body’s needs. It’s sometimes called congestive heart failure.
• Hypertension: Hypertension (high blood pressure) occurs when pumping blood puts too much pressure on blood vessel walls.
• Pregnancy complications: Women with ACHD may have an increased risk of pregnancy complications, including arrhythmia, heart failure and stroke.
• Pulmonary hypertension: Pulmonary hypertension is high blood pressure in the lung’s arteries. It can lead to heart failure.
• Stroke: A stroke occurs when a blood vessel in the brain becomes blocked or bursts. This blockage or rupture cuts off blood supply to the brain.
• Sudden cardiac death: Sudden cardiac death is a sudden loss of heart function. It’s caused by sudden cardiac arrest. This life-threatening condition occurs when the heart’s electrical system malfunctions, most commonly causing a dangerously fast heartbeat.
• Valve dysfunction: If the heart’s valves aren’t working correctly, blood may be restricted or back up into the heart chambers causing overload or the heart to work harder than it should.

It’s important to see a cardiologist regularly to monitor your heart and prevent or treat complications. Treatment will depend on the type of heart defect you have and how it’s affecting you personally.

How can I reduce the risk of a heart defect?

Scientists don't have all the answers yet as to what causes heart defects other than random gene mutations. But, there are things that place you at higher risk (smoking, alcohol, certain medications, etc.) and these should be avoided during pregnancy. There are otherwise no proven strategies to prevent CHD.

You should follow your healthcare provider’s instructions during pregnancy, including:

• Don’t use recreational drugs.
• Get all recommended screening tests during pregnancy to detect problems as early as possible.
• Manage any health conditions, such as diabetes and phenylketonuria.
• Stop smoking and avoid secondhand smoke.
• Avoid alcohol.

What is the outlook?

The outlook for people with congenital heart disease depends on the type of defect and its severity. Although serious cases can be life-threatening, many people with CHD live long, relatively normal and fulfilling lives. Decades ago, only 10% of children with CHD survived into adulthood. Advances in diagnosis and treatment now help about 90% survive.

How do I take care of myself with adult congenital heart disease?

To keep your heart as healthy as possible and prevent complications of ACHD:

• Eat a well-balanced, nutritious diet of heart-healthy foods.
• Exercise regularly (but only with your cardiologist’s approval).
• Maintain a healthy weight.
• See a cardiologist regularly throughout your life to monitor and manage ACHD and detect any complications.
• Tell all of your healthcare providers about the heart defect, all medications you take and what surgeries you’ve had.
• Understand the specific type of heart defect you have and what the possible complications are.
• If you plan to become pregnant, talk to your cardiologist, obstetrician and primary care doctor well in advance. They will help you understand and manage the risks throughout your pregnancy.

A note from Cleveland Clinic

Congenital heart disease is a defect in the heart’s structure that’s present at birth. It can be detected before a baby is born, soon after birth, or any time during childhood or adulthood. If you or your baby have a heart defect, it’s important to see a cardiologist who specializes in CHD. You should visit the cardiologist regularly throughout life to monitor the condition and keep the heart as healthy as possible.